AOPEP, variants, traits, and what the research shows

AOPEP - what this gene does

Variants in AOPEP are primarily linked to rare disease phenotypes, with additional associations observed in cancer and cardiovascular research. The highest-magnitude signals across the 97 variants on file are concentrated in the rare disease category.

Key takeaways

• Multiple high-magnitude variants point to rare disease associations
• One variant is linked to cancer and another to cardiovascular traits
• 97 total variants are catalogued, with 26 carrying prior research context
• Effect sizes and sample sizes are not available for the variants listed here
• These associations are population-level signals, not individual risk predictions

Notable variants

The four highest-magnitude variants on file - rs1043405296, rs2540340757, rs577000059, and rs778493729 - each carry a magnitude of 5.50 and are all linked to rare disease. Close behind at magnitude 5.00, rs747916174, rs776739942, and rs779393035 also carry rare disease associations, reinforcing that theme at the top of the evidence stack. Among the magnitude 4.50 variants, rs3802458 is linked to cancer and rs446540 to cardiovascular traits - the two non-rare-disease signals of note in the dataset.

Trait associations

Rare disease is the dominant trait theme: seven of the highest-magnitude variants (magnitude 5.00-5.50) all fall into this category, and multiple magnitude 3.00 variants - rs143074032, rs145969368, rs1263956569, and rs1837920795 - carry rare disease associations as well, suggesting this theme persists across multiple evidence tiers rather than reflecting a single isolated signal. Cancer is represented by rs3802458 and cardiovascular conditions by rs446540, both at magnitude 4.50; these are single-variant signals and should be interpreted with appropriate caution.

Evidence quality

The dataset contains 97 variants in total, of which 26 carry prior research summaries; however, the summaries available for the two published-page variants (rs10761374 and rs10993435) did not include extractable trait or effect-size detail, so specific odds ratios, beta coefficients, and sample sizes are not available for characterization here. The convergence of multiple independent rare disease signals at high magnitude across this gene is noteworthy, but replication status, cohort composition, and study design details are absent from the provided data - these associations should be treated as preliminary signals pending fuller review.

What this is NOT

These variants are population-level statistical associations, not deterministic predictors: carrying any of these variants does not mean an individual will develop the associated condition. Nothing here constitutes medical advice, a diagnosis, or a recommendation for any action.